International Journal of Health Sciences Research wwwijhsrorg - PDF document

International Journal of Health Sciences & Research (www.ijhsr.org) 265 Vol.6; Issue: 10; October 2016 International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249 - 9571 Case Report VATER Anomaly: A Rare Association Nawed Momin 1 , Sunil Kumar Agarwalla 2 , Hemant Pandi a 1 , Subhranshu Sekhar Dhal 1 1 Junior Resident, 2 Associate Professor, Department o f Paediatrics, M.K.C.G. Medical College , Berhampur, Ganjam, Odisha - 760004, India. Corresponding Author : Nawed Momin Received: 31 / 08 /2016 Re vised: 23 /09 /201 6 Accepted: 26 /09 /2016 ABSTRACT VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral defect, anal at resia, cardiac defects, tracheo esophageal fistula, renal anomalies and limb anomalies. Most of these cases occur sporadically. Some cases with chromosomal abnormalities are reported. Here we report such rare newborn with VATER association. Key words : Anal atresia, birth defects, sporadic, verte bral abnormalities, retrognath ia. INTRODUCTION The VACTERL association (also VATER association) refers to the non - random co - occurrence of birth defects vertebral anomalies, anal atresia, Cardiac defects, tracheoesophageal fistula and/or esophageal atresia, Renal & Radial anomalies an d Limb defects. Atleast 3 or more defects must be present to make a diagnosis of this condition . [ 1 ] In addition to these core components, patients may also have other congenital anomalies like hemifacialmicrosomia, external ea r malformations, lung lobation defects, intestinal malrotation and genital anomalies . [ 2 ] The incidence is estimated at approximately 1 in 10000 to 1 in 40000 live births . [ 1 ] Although VACTERL or VA TER are used as to represent same condition, VATER only has vertebral, anal, trachea - esopha geal, and renal defects. Only 1% of such cases present with the full range of anomalies . [ 2 ] CASE PRESENTATION A 2 days female baby, pr oduct of a non - consanguin e ous marriage admitted in our SNCU with complaints of respiratory distress. The baby was born through normal vaginal delivery and not cried after birth. There was no h/o meconium stained liquor or prolonged labour. On 2 nd day of li fe, baby developed respiratory distress and referred to our SNCU. On examination, baby was sick looking and sensorium was not good. Her weight was 1.8 kg. She was tachypneic with respiratory distress. SPO2 without O2 was 82%. Then maintained around

94% wit h O2. She was also having poor cry, reflexes and activity. On examination, the baby having microcephaly [figure 1], low set ear, retrognathia [figure 2 , 3 ] and high arched palate [figure 5]. There was persistent frothing from mouth. We were unable to put N GT into stomach. On auscultation chest, there was b/l conducted sounds. There was a systolic murmur at lower left sternal border. Moros, rooting and suckling reflexes were poor. Based on these, our provisional diagnosis was syndromic baby with HIE. Chest X - ray revealed abnormal cervical vertebrae (unfused) with coiling up of NGT (suggestive of TEF) [figure 4]. Based on phenotypic features a Nawed Momin et al. Vater Anomaly: A Rare Association International Journal of Health Sciences & Research (www.ijhsr.org) 266 Vol.6; Issue: 10; October 2016 final diagnosis of VATER anomaly with HIE was made. She was managed as per HIE protocol. On 4 th day of life, she becam e very sick and started gasping. Then baby became apneic and intubated and declared dead on 4 th day of life. Figure 1 : showing microcephaly Figure 2 : showing low set ears, retrognatia Figure 3 : showing retrognathia, low set ears Figure 4 : x ray showing unfused verte brae, coiling of NG Tube suggestive of esophage al atresia Figure 5 : showing high arched palate Nawed Momin et al. Vater Anomaly: A Rare Association International Journal of Health Sciences & Research (www.ijhsr.org) 267 Vol.6; Issue: 10; October 2016 DISCUSSION VATER is a non random association of specific birth (congenital) defect in structures derived from embryonic mesoderm. The name was used for the first time in 1972 by American physicians David Weyhe Smith and L inda Quan . [ 3 ] Each letter in VACTERL represents the first letter of one of the more common findings (V - vertebral defects, A - anal atresia , C - cardiac defects, TE - tracheo esophageal fistula, R - renal anomalies, L - limb defects). At least 3 of the 7 criteria must be present before making a diagnosis of this condition . [ 1 ] Only 1% of such cases present with the full range of anomalies . [ 2 ] Although VACTERL or VATER are used as t o represent same condition, VATER on ly has vertebral, anal, tracheo esophageal , and renal defects. The etiology is currently unknown, but is believed to be multifactorial . [ 7 ] The combination of VACTERL abnormalities can present with some chromosomal abnormalities. No specific genetic or chromosome problem has been identified with VACTER

L association. VACTERL can be seen with some chromosomal defects such as Trisomy 18. Deletion of long arm of chromosome 6 (6q13 - 15) and long arm of chromosome 13 have been reported in few cases . [ 4 ] Baby with VATER anomaly is often born pre - maturely and with low birth weight. Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) ve rtebrae or hemivertebra where only one half of the bone is formed. About 80 percent of patients with VACTERL association will have vertebral anomalies. [ 5 ] In early life these rarely cause any difficulties, although the presenc e of these defects on a chest x - ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine. Anal atresia or imperforate anus is seen in about 15% cases. Cardiac defects are seen in about 25% of cases. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. Less common defects are truncu s arteriosus and transposition of the great arteries . [ 6 ] Esophageal atresia with tracheo esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an i solated defect. Renal (kidney) defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery. Limb defects occur in up to 70 percent of b abies with VACTERL association and include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects such as radial aplasia . [ 8 ] Features secondary to VACTERL components inc luding single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies like intestinal and respiratory anomalies, and oligohydramnios sequence defects are frequent enough to be considered an extension of VACTERL. M any babies with VACTERL are born small and have difficulty with gaining weight. Babies with VACTERL association, however, do tend to have normal development and normal intelligence. Diagnosis is mainly clinical and is based on the phenotypic features. Beca use the cause of VACTERL association is unknown, no laboratory test exists that can diagnose or rule out this condition . [ 8 ] Although children with VACTERL association have many problems, they can survive and become healthy. Tr eatment is directed towards the specific symptoms

that are apparent in each child, which often varies greatly. Many of the structural abnormalities (radial defects, cardiac defects, anal atresia etc.) require staged surgical corrections. Infants with this condition need to be managed by a multidisciplinary team including pediatricians, cardiologists, urologists, orthopedic surgeons, otorhinolar y ngologists Nawed Momin et al. Vater Anomaly: A Rare Association International Journal of Health Sciences & Research (www.ijhsr.org) 268 Vol.6; Issue: 10; October 2016 and clinical geneticist in order to have a reasonable life expectancy . [ 4 ] CONCLUSION VATER anomaly is a rare association reported in very small no. of cases and involves multiple organ systems. Occurrence is usually sporadic. Some cases with chromosomal abnormalities are reported. Diagnosis is mainly clinical and is based on t he phenotypic features. Multidisciplinary management is required with staged surgical approach being the mainstay of management. REFERENCES 1. Solomon, BD "VACTERL/VATER Association. ”Orphaned journal of rare diseases. (Aug 16, 2011). 6: 56. doi:10.1186/1750 - 1172 - 6 - 56. PMC 3169446 free to read. PMID 21846383. 2. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 1983; 71: 815 - 820. 3. Quan L, Smith DW. The VATE R association. Vertebral defects, anal atresia, T - E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatrics. 1973; 82(1): 104 - 107. 4. Aynaci FM, Celep F, Karaguzel A, Baki A, Yildiran A. A case of VATER asso ciation associated with 9qh+. Genet Couns 1996; 7(4): 321 - 322. 5. "VACTERL association". Genetics Home Reference. Retrieved 29 October 2012. 6. Rittler, M; Paz, JE; Castilla, EE. "VACTERL association, epidemiologic definition and delineation." American Journal o f Medical Genetics (Jun 28, 1996). 63 (4): 529 - 36.doi:10.1002/ (sici) 1096 - 8628(19960628)63:4 aid - ajmg�43.0.co; 2 - j. PMID 8826430. 7. Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G. "Developmental field defects: coming together of associations and s equences during blastogenesis." Am J Med Genet. (2002) 110 (4): 320 - 3. doi:10. 1002/ajmg.10429. PMID 12116204. 8. Salati SA, Rabah SM. VACTERL association. Online J Health Allied Scs. 2010; 9(2): 15. ** ********* How to cite this article: Momin N, Agarwalla SK, Pandia H et al . VATER anomaly: a rare association . Int J Health Sci Res. 201 6; 6(10 ): 265 - 26